Varaico: Literature-Extracted Genetic Variants

MTHFD1

490 papers

RefSeq Summary

This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate...

Pfam Domains

THF_DHG_CYHaa 7–125UCSCTetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

THF_DHG_CYH_Caa 146–295UCSCTetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain

FTHFSaa 317–910UCSCFormate--tetrahydrofolate ligase

Gene Aliases

HGNC Name

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

HGNC Previous Symbol

MTHFC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005956.4

p.V275I

c.823G>A

Surrounding Variants

1 paper

NM_005956.4

p.G274D

c.821G>A

1 paper

NM_005956.4

p.G276R

c.826G>A

1 paper

NM_005956.4

p.G276R

c.826G>C

1 paper

NM_005956.4

p.G276A

c.827G>C

3 papers

NM_005956.4

p.M278T

c.833T>C

1 paper

NM_005956.4

p.V271A

c.812T>C

1 paper

NM_005956.4

p.V271L

c.811G>C

1 paper

NM_005956.4

p.T279I

c.836C>T

1 paper

NM_005956.4

p.V280I

c.838G>A

1 paper

NM_005956.4

p.T269I

c.806C>T

1 paper

NM_005956.4

p.A265V

c.794C>T

2 papers

NM_005956.4

p.D259E

c.777C>A